Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_006590.4
p.H130Y
c.388C>T
Surrounding Variants
NM_006590.4
p.L123fs
c.367_368fs
NM_006590.4
p.L123delFs
c.368_369delTG
NM_006590.4
p.E121Q
c.361G>C
NM_006590.4
p.G147D
c.440G>A
NM_006590.4
p.Y153N
c.457T>A
NM_006590.4
p.Y179N
c.535T>A
NM_006590.4
p.S102R
c.306C>A
NM_006590.4
p.R213Q
c.638G>A
NM_006590.4
p.A238S
c.712G>T
NM_006590.4
p.Q241*
c.721C>T
NM_006590.4
p.R71L
c.212G>T
NM_006590.4
p.R71W
c.211C>T